Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Eight of 19 patients with NS/MPD carried the Thr73Ile substitution. 15928039

2005

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found. 15723289

2005

dbSNP: rs121918462
rs121918462
0.740 GeneticVariation BEFREE In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found. 15723289

2005

dbSNP: rs121918462
rs121918462
0.740 GeneticVariation BEFREE A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia. 15539800

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia. 15009076

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR Previously, we found that expression of the mutated protein SHP2 Q79R in the heart led to a phenotypic presentation that mimicked some aspects of NS and that this was dependent upon activation of the ERK1/2 pathway. 19706403

2009

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions. 19017799

2008

dbSNP: rs121918466
rs121918466
0.730 GeneticVariation BEFREE We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions. 19017799

2008

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD. 17641779

2007

dbSNP: rs121918466
rs121918466
0.730 GeneticVariation BEFREE Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD. 17641779

2007

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR The Q79R mutation of PTPN11 previously identified in Noonan syndrome families results in a gain-of-function of the encoded protein tyrosine phosphatase Shp2. 16166557

2005

dbSNP: rs121918466
rs121918466
0.730 GeneticVariation BEFREE Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. 16166557

2005

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615

2004

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870

2003

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711

2003

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002

dbSNP: rs121918466
rs121918466
G 0.730 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001